Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

Autor: Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)

Abstract Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been demonstrated to r

Externí odkaz: https://doaj.org/article/4ff1c19df53e4efbbc6b1d8bf05fb8cc

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.

Autor: Emma L Duncan, Patrick Danoy, John P Kemp, Paul J Leo, Eugene McCloskey, Geoffrey C Nicholson, Richard Eastell, Richard L Prince, John A Eisman, Graeme Jones, Philip N Sambrook, Ian R Reid, Elaine M Dennison, John Wark, J Brent Richards, Andre G Uitterlinden, Tim D Spector, Chris Esapa, Roger D Cox, Steve D M Brown, Rajesh V Thakker, Kathryn A Addison, Linda A Bradbury, Jacqueline R Center, Cyrus Cooper, Catherine Cremin, Karol Estrada, Dieter Felsenberg, Claus-C Glüer, Johanna Hadler, Margaret J Henry, Albert Hofman, Mark A Kotowicz, Joanna Makovey, Sing C Nguyen, Tuan V Nguyen, Julie A Pasco, Karena Pryce, David M Reid, Fernando Rivadeneira, Christian Roux, Kari Stefansson, Unnur Styrkarsdottir, Gudmar Thorleifsson, Rumbidzai Tichawangana, David M Evans, Matthew A Brown

Publikováno v: PLoS Genetics, Vol 7, Iss 4, p e1001372 (2011)

Osteoporotic fracture is a major cause of morbidity and mortality worldwide. Low bone mineral density (BMD) is a major predisposing factor to fracture and is known to be highly heritable. Site-, gender-, and age-specific genetic effects on BMD are th

Externí odkaz: https://doaj.org/article/67487b75c7514774bb6c8bedffb4cbdc

Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease.

Autor: Patrick Danoy, Karena Pryce, Johanna Hadler, Linda A Bradbury, Claire Farrar, Jennifer Pointon, Australo-Anglo-American Spondyloarthritis Consortium, Michael Ward, Michael Weisman, John D Reveille, B Paul Wordsworth, Millicent A Stone, Spondyloarthritis Research Consortium of Canada, Walter P Maksymowych, Proton Rahman, Dafna Gladman, Robert D Inman, Matthew A Brown

Publikováno v: PLoS Genetics, Vol 6, Iss 12, p e1001195 (2010)

Ankylosing spondylitis (AS) is a common inflammatory arthritic condition. Overt inflammatory bowel disease (IBD) occurs in about 10% of AS patients, and in addition 70% of AS cases may have subclinical terminal ileitis. Spondyloarthritis is also comm

Externí odkaz: https://doaj.org/article/e7e7a644f80b4c5cb5acdf7d3d2ee2a0

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Autor: Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen

Publikováno v: Am J Hum Genet

Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3847493e457643efaf7244e001b19ac0
https://pubmed.ncbi.nlm.nih.gov/36332611

Pongamia pinnata: An Untapped Resource for the Biofuels Industry of the Future

Autor: Lisette Pregelj, Peter M. Gresshoff, Michael A. Djordjevic, Johanna Hadler, Paul T. Scott, Ning Chen

Publikováno v: BioEnergy Research. 1:2-11

Pongamia pinnata (L.) Pierre is a fast-growing leguminous tree with the potential for high oil seed production and the added benefit of the ability to grow on marginal land. These properties support the suitability of this plant for large-scale veget

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bec475c00a81797c8e8c02177517957f
https://doi.org/10.1007/s12155-008-9003-0